Anti-prion drugs do not improve survival in novel knock-in models of inherited prion disease.

Prion diseases uniquely manifest in three distinct forms: inherited, sporadic, and infectious. Wild-type prions are responsible for the sporadic and infectious versions, while mutant prions cause inherited variants like fatal familial insomnia (FFI) and familial Creutzfeldt-Jakob disease (fCJD). Alt...

Full description

Saved in:
Bibliographic Details
Main Authors: Daniel J Walsh, Judy R Rees, Surabhi Mehra, Matthew E C Bourkas, Lech Kaczmarczyk, Erica Stuart, Walker S Jackson, Joel C Watts, Surachai Supattapone
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2024-04-01
Series:PLoS Pathogens
Online Access:https://journals.plos.org/plospathogens/article/file?id=10.1371/journal.ppat.1012087&type=printable
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1849221357972226048
author Daniel J Walsh
Judy R Rees
Surabhi Mehra
Matthew E C Bourkas
Lech Kaczmarczyk
Erica Stuart
Walker S Jackson
Joel C Watts
Surachai Supattapone
author_facet Daniel J Walsh
Judy R Rees
Surabhi Mehra
Matthew E C Bourkas
Lech Kaczmarczyk
Erica Stuart
Walker S Jackson
Joel C Watts
Surachai Supattapone
author_sort Daniel J Walsh
collection DOAJ
description Prion diseases uniquely manifest in three distinct forms: inherited, sporadic, and infectious. Wild-type prions are responsible for the sporadic and infectious versions, while mutant prions cause inherited variants like fatal familial insomnia (FFI) and familial Creutzfeldt-Jakob disease (fCJD). Although some drugs can prolong prion incubation times up to four-fold in rodent models of infectious prion diseases, no effective treatments for FFI and fCJD have been found. In this study, we evaluated the efficacy of various anti-prion drugs on newly-developed knock-in mouse models for FFI and fCJD. These models express bank vole prion protein (PrP) with the pathogenic D178N and E200K mutations. We applied various drug regimens known to be highly effective against wild-type prions in vivo as well as a brain-penetrant compound that inhibits mutant PrPSc propagation in vitro. None of the regimens tested (Anle138b, IND24, Anle138b + IND24, cellulose ether, and PSCMA) significantly extended disease-free survival or prevented mutant PrPSc accumulation in either knock-in mouse model, despite their ability to induce strain adaptation of mutant prions. Our results show that anti-prion drugs originally developed to treat infectious prion diseases do not necessarily work for inherited prion diseases, and that the recombinant sPMCA is not a reliable platform for identifying compounds that target mutant prions. This work underscores the need to develop therapies and validate screening assays specifically for mutant prions, as well as anti-prion strategies that are not strain-dependent.
format Article
id doaj-art-bc72e3d470f04611b70c93e0829e5d34
institution Kabale University
issn 1553-7366
1553-7374
language English
publishDate 2024-04-01
publisher Public Library of Science (PLoS)
record_format Article
series PLoS Pathogens
spelling doaj-art-bc72e3d470f04611b70c93e0829e5d342024-11-15T05:30:47ZengPublic Library of Science (PLoS)PLoS Pathogens1553-73661553-73742024-04-01204e101208710.1371/journal.ppat.1012087Anti-prion drugs do not improve survival in novel knock-in models of inherited prion disease.Daniel J WalshJudy R ReesSurabhi MehraMatthew E C BourkasLech KaczmarczykErica StuartWalker S JacksonJoel C WattsSurachai SupattaponePrion diseases uniquely manifest in three distinct forms: inherited, sporadic, and infectious. Wild-type prions are responsible for the sporadic and infectious versions, while mutant prions cause inherited variants like fatal familial insomnia (FFI) and familial Creutzfeldt-Jakob disease (fCJD). Although some drugs can prolong prion incubation times up to four-fold in rodent models of infectious prion diseases, no effective treatments for FFI and fCJD have been found. In this study, we evaluated the efficacy of various anti-prion drugs on newly-developed knock-in mouse models for FFI and fCJD. These models express bank vole prion protein (PrP) with the pathogenic D178N and E200K mutations. We applied various drug regimens known to be highly effective against wild-type prions in vivo as well as a brain-penetrant compound that inhibits mutant PrPSc propagation in vitro. None of the regimens tested (Anle138b, IND24, Anle138b + IND24, cellulose ether, and PSCMA) significantly extended disease-free survival or prevented mutant PrPSc accumulation in either knock-in mouse model, despite their ability to induce strain adaptation of mutant prions. Our results show that anti-prion drugs originally developed to treat infectious prion diseases do not necessarily work for inherited prion diseases, and that the recombinant sPMCA is not a reliable platform for identifying compounds that target mutant prions. This work underscores the need to develop therapies and validate screening assays specifically for mutant prions, as well as anti-prion strategies that are not strain-dependent.https://journals.plos.org/plospathogens/article/file?id=10.1371/journal.ppat.1012087&type=printable
spellingShingle Daniel J Walsh
Judy R Rees
Surabhi Mehra
Matthew E C Bourkas
Lech Kaczmarczyk
Erica Stuart
Walker S Jackson
Joel C Watts
Surachai Supattapone
Anti-prion drugs do not improve survival in novel knock-in models of inherited prion disease.
PLoS Pathogens
title Anti-prion drugs do not improve survival in novel knock-in models of inherited prion disease.
title_full Anti-prion drugs do not improve survival in novel knock-in models of inherited prion disease.
title_fullStr Anti-prion drugs do not improve survival in novel knock-in models of inherited prion disease.
title_full_unstemmed Anti-prion drugs do not improve survival in novel knock-in models of inherited prion disease.
title_short Anti-prion drugs do not improve survival in novel knock-in models of inherited prion disease.
title_sort anti prion drugs do not improve survival in novel knock in models of inherited prion disease
url https://journals.plos.org/plospathogens/article/file?id=10.1371/journal.ppat.1012087&type=printable
work_keys_str_mv AT danieljwalsh antipriondrugsdonotimprovesurvivalinnovelknockinmodelsofinheritedpriondisease
AT judyrrees antipriondrugsdonotimprovesurvivalinnovelknockinmodelsofinheritedpriondisease
AT surabhimehra antipriondrugsdonotimprovesurvivalinnovelknockinmodelsofinheritedpriondisease
AT matthewecbourkas antipriondrugsdonotimprovesurvivalinnovelknockinmodelsofinheritedpriondisease
AT lechkaczmarczyk antipriondrugsdonotimprovesurvivalinnovelknockinmodelsofinheritedpriondisease
AT ericastuart antipriondrugsdonotimprovesurvivalinnovelknockinmodelsofinheritedpriondisease
AT walkersjackson antipriondrugsdonotimprovesurvivalinnovelknockinmodelsofinheritedpriondisease
AT joelcwatts antipriondrugsdonotimprovesurvivalinnovelknockinmodelsofinheritedpriondisease
AT surachaisupattapone antipriondrugsdonotimprovesurvivalinnovelknockinmodelsofinheritedpriondisease